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OSH Inherited Cardiac Disease
Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised by markedly elevated LDL cholesterol, autosomal dominant inheritance, premature cardiovascular disease and tendon xanthomata. FH is a genetically heterogeneous disorder, but the most common underlying molecular cause is mutation of the LDL receptor gene. The worldwide prevalence of FH is 1:500. South Africa has three founder populations in which the prevalence of FH maydoi:10.1093/med/9780199559688.003.0129 fatcat:2ulsvi2wxjcg7hr2zl3n3oyr34